PMID- 8105684
OWN - NLM
STAT- MEDLINE
DCOM- 19931028
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 53
IP  - 4
DP  - 1993 Oct
TI  - Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients 
      suggest a high frequency of the CMTIA duplication.
PG  - 853-63
AB  - Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral 
      neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased 
      nerve conduction velocities, usually shows autosomal dominant inheritance, and is 
      associated with a large submicroscopic duplication of the p11.2-p12 region of 
      chromosome 17. A cohort of 75 unrelated patients diagnosed clinically with CMT 
      and evaluated by electrophysiological methods were analyzed molecularly for the 
      presence of the CMT1A DNA duplication. Three methodologies were used to assess 
      the duplication: measurement of dosage differences between RFLP alleles, analysis 
      of polymorphic (GT)n repeats, and detection of a junction fragment by 
      pulsed-field gel electrophoresis. The CMT1A duplication was found in 68% of the 
      63 unrelated CMT patients with electrophysiological studies consistent with CMT 
      type 1 (CMT1). The CMT1A duplication was detected as a de novo event in two CMT1 
      families. Twelve CMT patients who did not have decreased nerve conduction 
      velocities consistent with a diagnosis of CMT type 2 (CMT2) were found not to 
      have the CMT1A duplication. The most informative molecular method was the 
      detection of the CMT1A duplication-specific junction fragment. Given the high 
      frequency of the CMT1A duplication in CMT patients and the high frequency of new 
      mutations, we conclude that a molecular test for the CMT1A DNA duplication is 
      very useful in the differential diagnosis of patients with peripheral 
      neuropathies.
FAU - Wise, C A
AU  - Wise CA
AD  - Institute for Molecular Genetics, Baylor College of Medicine, Houston 77030.
FAU - Garcia, C A
AU  - Garcia CA
FAU - Davis, S N
AU  - Davis SN
FAU - Heju, Z
AU  - Heju Z
FAU - Pentao, L
AU  - Pentao L
FAU - Patel, P I
AU  - Patel PI
FAU - Lupski, J R
AU  - Lupski JR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
CIN - Am J Hum Genet. 1994 Apr;54(4):727-9. PMID: 8128972
GS  - CMT1A
GS  - PMP22
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Chromosomes, Human, Pair 17
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Female
MH  - Humans
MH  - Male
MH  - *Multigene Family
MH  - Mutation
MH  - Neural Conduction
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - Repetitive Sequences, Nucleic Acid
PMC - PMC1682385
EDAT- 1993/10/01 00:00
MHDA- 1993/10/01 00:01
PMCR- 1994/04/01
CRDT- 1993/10/01 00:00
PHST- 1993/10/01 00:00 [pubmed]
PHST- 1993/10/01 00:01 [medline]
PHST- 1993/10/01 00:00 [entrez]
PHST- 1994/04/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1993 Oct;53(4):853-63.